← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-13359597-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13359597&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13359597,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001127222.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "NM_001127222.2",
"protein_id": "NP_001120694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2506,
"cds_start": -4,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8647,
"mane_select": "ENST00000360228.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000360228.11",
"protein_id": "ENSP00000353362.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2506,
"cds_start": -4,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8647,
"mane_select": "NM_001127222.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000638029.1",
"protein_id": "ENSP00000489829.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2512,
"cds_start": -4,
"cds_end": null,
"cds_length": 7539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000573710.7",
"protein_id": "ENSP00000460092.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2508,
"cds_start": -4,
"cds_end": null,
"cds_length": 7527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000635727.1",
"protein_id": "ENSP00000490001.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2507,
"cds_start": -4,
"cds_end": null,
"cds_length": 7524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000637769.1",
"protein_id": "ENSP00000489778.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2507,
"cds_start": -4,
"cds_end": null,
"cds_length": 7524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000636012.1",
"protein_id": "ENSP00000490223.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2495,
"cds_start": -4,
"cds_end": null,
"cds_length": 7488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000587525.6",
"protein_id": "ENSP00000467729.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2494,
"cds_start": -4,
"cds_end": null,
"cds_length": 7485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.837+9T>C",
"hgvs_p": null,
"transcript": "ENST00000637736.1",
"protein_id": "ENSP00000489861.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2460,
"cds_start": -4,
"cds_end": null,
"cds_length": 7383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000636389.1",
"protein_id": "ENSP00000489992.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2302,
"cds_start": -4,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000637432.1",
"protein_id": "ENSP00000490617.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2266,
"cds_start": -4,
"cds_end": null,
"cds_length": 6801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000636549.1",
"protein_id": "ENSP00000490578.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2263,
"cds_start": -4,
"cds_end": null,
"cds_length": 6792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000637927.1",
"protein_id": "ENSP00000489715.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2262,
"cds_start": -4,
"cds_end": null,
"cds_length": 6789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000635895.1",
"protein_id": "ENSP00000490323.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2261,
"cds_start": -4,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000638009.2",
"protein_id": "ENSP00000489913.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2261,
"cds_start": -4,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000637276.1",
"protein_id": "ENSP00000489777.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2249,
"cds_start": -4,
"cds_end": null,
"cds_length": 6750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000636768.2",
"protein_id": "ENSP00000490190.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000713789.1",
"protein_id": "ENSP00000519091.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "NM_023035.3",
"protein_id": "NP_075461.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2512,
"cds_start": -4,
"cds_end": null,
"cds_length": 7539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000637819.2",
"protein_id": "ENSP00000490686.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2508,
"cds_start": -4,
"cds_end": null,
"cds_length": 7527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000585802.7",
"protein_id": "ENSP00000465598.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2496,
"cds_start": -4,
"cds_end": null,
"cds_length": 7491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.1173+9T>C",
"hgvs_p": null,
"transcript": "ENST00000664864.1",
"protein_id": "ENSP00000499449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "NM_000068.4",
"protein_id": "NP_000059.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2266,
"cds_start": -4,
"cds_end": null,
"cds_length": 6801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "NM_001174080.2",
"protein_id": "NP_001167551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2263,
"cds_start": -4,
"cds_end": null,
"cds_length": 6792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "NM_001127221.2",
"protein_id": "NP_001120693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2261,
"cds_start": -4,
"cds_end": null,
"cds_length": 6786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "c.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000636473.2",
"protein_id": "ENSP00000490173.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2165,
"cds_start": -4,
"cds_end": null,
"cds_length": 6498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.990+9T>C",
"hgvs_p": null,
"transcript": "ENST00000573891.7",
"protein_id": "ENSP00000460276.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*650+9T>C",
"hgvs_p": null,
"transcript": "ENST00000574974.4",
"protein_id": "ENSP00000459963.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.693+9T>C",
"hgvs_p": null,
"transcript": "ENST00000593160.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000636058.2",
"protein_id": "ENSP00000490075.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.337+9T>C",
"hgvs_p": null,
"transcript": "ENST00000636974.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.978+9T>C",
"hgvs_p": null,
"transcript": "ENST00000637777.2",
"protein_id": "ENSP00000490475.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.831+9T>C",
"hgvs_p": null,
"transcript": "ENST00000637966.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"hgvs_c": "n.*504+9T>C",
"hgvs_p": null,
"transcript": "ENST00000713788.1",
"protein_id": "ENSP00000519090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1A",
"gene_hgnc_id": 1388,
"dbsnp": "rs111366222",
"frequency_reference_population": 0.000055526372,
"hom_count_reference_population": 0,
"allele_count_reference_population": 89,
"gnomad_exomes_af": 0.0000213716,
"gnomad_genomes_af": 0.000380782,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 58,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.501,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001127222.2",
"gene_symbol": "CACNA1A",
"hgnc_id": 1388,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.978+9T>C",
"hgvs_p": null
}
],
"clinvar_disease": " 42,CACNA1A-related disorder,Developmental and epileptic encephalopathy,Episodic ataxia type 2,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not specified|not provided|Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42|CACNA1A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}